PULLANO, VERDIANA
PULLANO, VERDIANA
NEUROSCIENZE "RITA LEVI MONTALCINI"
A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis
2024-01-01 S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco
CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects
2025-01-01 Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco
Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs)
2023-01-01 Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023-01-01 Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
2025-01-01 Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; Mussa, Alessandro
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
2025-01-01 Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024-01-01 Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation
2026-01-01 Rossi Sebastiano, Matteo; Vicidomini, Antonio; Francisco, Serena; Pullano, Verdiana; Defilippi, Paola; Baj, Gabriele; Cesca, Fabrizia; Caron, Giulia; Ermondi, Giuseppe
NOVEL DISEASE GENES DISCOVERY AND INNOVATIVE APPROACHES FOR INVESTIGATING NEURODEVELOPMENTAL DISORDERS
2025-04-06
Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias
2024-01-01 Rossi Sebastiano, Matteo; Hadano, Shinji; Cesca, Fabrizia; Ermondi, Giuseppe; Caron, Giulia; Francisco, Serena; Brusco, Alfredo; Pullano, Verdiana; Chiantia, Giuseppe; Giustetto, Maurizio ; Baj, Gabriele; Della Vecchia, Stefania; Lamacchia, Lorenzo; Russo, Silvia; Higgins, Anna J.; van Putte, Wouter; Gurgone, Antonia
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome
2022-01-01 Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Isidor Bertrand, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
UBE2I: a promising candidate gene in syndromic neurodevelopmental disorders involved in sumoylation pathways
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Elena Sukarova-Angelovska, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
Unraveling oligogenic interactions in neurodevelopmental disorders: insights into GatCAB complex genes
2024-01-01 C. Leso, L. Pavinato, V. Gattolin, G. Vinci, F. De Paoli, S. Zucca, P. Rebelo-Guiomar, A. Aulino, V. Pullano, S. Cardaropoli, G.B. Ferrero, A. Brusco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis | 2024 | S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco | |
| CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects | 2025 | Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco | |
| Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs) | 2023 | Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco | |
| Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype | 2023 | Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M | |
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | 2024 | Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo | |
| Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome | 2025 | Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; Mussa, Alessandro | |
| Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus | 2025 | Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W | |
| Identification of the DNA methylation signature of Mowat-Wilson syndrome | 2024 | Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia | |
| MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation | 2026 | Rossi Sebastiano, Matteo; Vicidomini, Antonio; Francisco, Serena; Pullano, Verdiana; Defilippi, Paola; Baj, Gabriele; Cesca, Fabrizia; Caron, Giulia; Ermondi, Giuseppe | |
| NOVEL DISEASE GENES DISCOVERY AND INNOVATIVE APPROACHES FOR INVESTIGATING NEURODEVELOPMENTAL DISORDERS | 2025 | - | |
| Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias | 2024 | Rossi Sebastiano, Matteo; Hadano, Shinji; Cesca, Fabrizia; Ermondi, Giuseppe; Caron, Giulia; Francisco, Serena; Brusco, Alfredo; Pullano, Verdiana; Chiantia, Giuseppe; Giustetto, Maurizio ; Baj, Gabriele; Della Vecchia, Stefania; Lamacchia, Lorenzo; Russo, Silvia; Higgins, Anna J.; van Putte, Wouter; Gurgone, Antonia | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome | 2022 | Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Isidor Bertrand, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco | |
| UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco | |
| UBE2I: a promising candidate gene in syndromic neurodevelopmental disorders involved in sumoylation pathways | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Elena Sukarova-Angelovska, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco | |
| Unraveling oligogenic interactions in neurodevelopmental disorders: insights into GatCAB complex genes | 2024 | C. Leso, L. Pavinato, V. Gattolin, G. Vinci, F. De Paoli, S. Zucca, P. Rebelo-Guiomar, A. Aulino, V. Pullano, S. Cardaropoli, G.B. Ferrero, A. Brusco |